Sickle cell anemia

You have been told you have inherited an abnormal oxygen carrying red cells. You feel helpless as you cannot do anything about your genes now. But you can promise yourself a normal life, if you follow some precautions.

Symptoms

TSickle cell anemia symptoms may be caused depending upon which part of the body gets lesser blood supply. This can lead to pain in the affected part.

  • Blood vessels can be blocked in the arms, legs, chest, or abdomen.
  • You may develop painful swelling of hands and feet.
  • When blood supply to the spleen, an organ in the abdomen that protects against infections, is damaged, there may be abdominal pain and also infections.
  • Blocked vessels in the brain can cause paralysis of the part controlled by the affected segment of the brain or blackouts, dizziness and fainting episodes.
  • There may be slurring of speech.
  • Children may show an unusual behavior and delay of developmental milestones.

Complications

Sickle cell disease can cause several complications like bone or joint damage, eye damage, painful persistent erections in males called priapism, and damage to internal organs like lung, kidney, liver, and spleen. It delays growth in children. The most feared complication is sickle cell crisis characterized by sudden severe pain.

Preventing sickle cell disease

Sickle cell disease is inherited, so you need to consult a genetic counselor if you are planning a family. You may undergo in vitro fertilization where the eggs and sperms obtained from the affected parents are made to fertilize under laboratory conditions and checked for genetic structure. If normal, the fertilized egg is then implanted in the womb of the mother. Sickle cell disease is a challenge for a lifetime. Prevent it from crippling your life.

Sickle cell disease or sickle cell anemia is a genetic disorder of hemoglobin, a protein in red cells that binds oxygen and enables it to be transported to all tissues in our body. Normally, the red cells are disc shaped and very flexible. They can mould the shape to pass through very narrow blood vessels. In sickle cell anemia, the red cells become crescent shaped or sickle shaped and rigid, hence the name, sickle cell. They do not pass through small vessels hence causing a compromised flow to some tissues. These C shaped cells live shorter than the normal cells.

The cause is genetic. As we inherit the color of our eyes, skin and hair from our parents, we also inherit the sickle cells gene that determines the type of hemoglobin we will have.

To be able to get sickle cell disease, a child should inherit a sickle cell gene from both parents. If a child gets one normal and one defective gene, then the child becomes a carrier. If both the parents are carriers of the disease, then the child has 25% chance of getting the disease. If one parent is a carrier and another has sickle cell disease, then the child has 50% chance of getting sickle cell anemia.

Sickle cell disease treatment is aimed at relieving pain and preventing infections. You may need antibiotics to fight infections. Folic acid and vitamin supplements can help to replace the damaged red cells in the blood. When internal organs are affected, you will need to be hospitalized and depending upon severity of the condition, you may need to be infused fluids, given pain control drugs, blood transfusions, and even undergo intensive care.

An anti-tumor drug called hydroxyurea may be used to stimulate the formation of fetal hemoglobin, a type of hemoglobin that is present in babies developing in the mother’s womb. The fetal hemoglobin prevents sickling of cells. This reduces the frequency of painful episodes and the need for blood transfusions.

Sickle cell disease cannot be cured. Bone marrow transplant has been successful in some cases.

Gene therapy may be used wherein the defective gene is corrected by complex cellular techniques.

Pain relief is an important part of sickle cell treatment. You can use of the over-the-counter pain killers to relieve the pain. Some of these are aspirin, acetaminophen, ibuprofen, and naproxen.

  • You should adopt some lifestyle remedies to combat pain.
  • Eat a balanced diet and take folic acid and vitamin supplements.
  • Drink plenty of water to avoid dehydration.
  • Reduce stress, take rest and avoid extreme temperatures.
  • Avoid high latitude areas and fly in aircrafts with pressurized cabins.
  • Exercise regularly but avoid excess of it.
  • Some medicines like pseudoephedrine available over counters in cold remedies can constrict blood vessels and precipitate an attack. You will need to be cautious of self medication.
  • Protect yourself from infections.
  • Make sure you have had all your vaccinations.
  • Some alternate techniques like hot baths, massages, physical therapy, psychological therapy, and meditation are also helpful.
  • Seek support of family, friends, and support groups.

Sickle cell crisis is a condition in which the rigid crescent shaped red cells block the vessels of the bones, joints, lungs or abdomen. This can cause pain in arms, legs, chest, back, knees, etc. that may last few hours to several days. The pain can be dull, throbbing, stabbing, or tearing. Each episode of crisis may have varying types and intensities of pain.

Another form of crisis is one that can results in a rapid and profound anemia. This is because the spleen gets enlarged by trapping the abnormal red cells. This is called sequestration crisis. The patient develops a large spleen and complains of fatigue, weakness, and pain in abdomen. Sickle cell crisis can be triggered by cold or dehydration.